A newly published study by Nellore et al. in Genome Biology provides us with the most comprehensive view of human transcriptome splicing to date, having (re)analyzed over 21,500 RNA sequencing (RNA-seq) datasets and discovered 56,865 novel splice junctions .
RNA splicing is a post-transcriptional RNA processing mechanism occurring in eukaryotic organisms whereby introns are removed from pre-mRNA leading to mature mRNA molecules, or transcripts, consisting of joined exons. The process of RNA splicing generates distinct transcript variants of the same gene, referred to as alternative transcript isoforms, the translation of which leads to distinct protein products. Thus, alternative splicing is a critical process that ensures protein diversity, with most of the multi-exon genes in humans generating multiple alternative transcript isoforms.